Neurocutaneous Melanosis in Association with Dandy-Walker Complex with Extensive Intracerebral and Spinal Cord Involvement

Abstract

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.

Symptomatic neurocutaneous melanosis with unusual benign course: A case report and review

“…Other important associations include Dandy-Walker complex, posterior fossa cysts, lipoma of the spine, arachnoid cyst, and tethered spinal cord. [9][10][11] The association of NCM with other abnormalities increases the risk of symptomatic NCM and is considered a poor prognostic factor.…”

Neurocutaneous melanosis is not always a benign disease

“…[10][11][12][13] Table 1 shows a summary of some reported similar cases of brain melanoma associated with NCM. 6,[14][15][16] downregulation enhances the proliferation and viability of neurocutaneous melanosis cells. They assumed that inhibition of insulin-like growth factor 1 receptor may lead to loss of viability of neurocutaneous melanosis which may represent in the future a therapeutic target for this rare fatal disease.…”

Dandy–Walker Malformation and Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episode Syndrome

“…It has been shown to be associated with multiple congenital anomalies or other diseases including down syndrome, Wisconsin syndrome, neurocutaneous melanosis, and schizophrenia. [ 1 2 3 4 ] However, to the best of our knowledge, there are few reports of a DWM diagnosis associated with mitochondrial diseases. MELAS syndrome is one of the most frequently occurring mitochondrial disorders and is most commonly caused by an A-to-G transition mutation at the 3243 position of the mitochondrial genome.…”